ClinVar for MedGen (Select 414552) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701778	NM_001943.5(DSG2):c.2990del (p.Gly997fs)	DSG2, DSG2-AS1 (G997fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GPathogenic/Likely pathogenic
Select item 1677394	NM_001943.5(DSG2):c.721G>A (p.Ala241Thr)	DSG2 (A241T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1359710	NM_001943.5(DSG2):c.45+5G>C	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1BB +2 more	GUncertain significance
Select item 1359573	NM_001943.5(DSG2):c.2375_2379dup (p.Asp794fs)	DSG2, DSG2-AS1 (D794fs)	Duplication (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1BB +1 more	GPathogenic/Likely pathogenic
Select item 1309112	NM_001943.5(DSG2):c.1013A>T (p.Lys338Met)	DSG2 (K338M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1284722	NM_001943.5(DSG2):c.45+16G>C	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GBenign/Likely benign
Select item 1284607	NM_001943.5(DSG2):c.81+17A>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GLikely benign
Select item 1171453	NM_001943.5(DSG2):c.2813C>A (p.Thr938Asn)	DSG2, DSG2-AS1 (T938N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GUncertain significance
Select item 1171153	NM_001943.5(DSG2):c.355C>T (p.Arg119Ter)	DSG2 (R119*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1066747	NM_001943.5(DSG2):c.1423+1G>T	DSG2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GLikely pathogenic
Select item 1057654	NM_001943.5(DSG2):c.1811A>G (p.His604Arg)	DSG2 (H604R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1BB +1 more	GUncertain significance
Select item 1038063	NM_001943.5(DSG2):c.2525G>A (p.Gly842Asp)	DSG2, DSG2-AS1 (G842D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1003548	NM_001943.5(DSG2):c.3283C>A (p.His1095Asn)	DSG2, DSG2-AS1 (H1095N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GConflicting classifications of pathogenicity
Select item 1001605	NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys)	DSG2 (F388C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1BB +3 more	GUncertain significance
Select item 978279	NM_001943.5(DSG2):c.2768C>G (p.Pro923Arg)	DSG2, DSG2-AS1 (P923R)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 950392	NM_001943.5(DSG2):c.1949C>T (p.Thr650Ile)	DSG2 (T650I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 928368	NM_001943.5(DSG2):c.2976A>G (p.Ile992Met)	DSG2, DSG2-AS1 (I992M)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 926324	NM_001943.5(DSG2):c.47T>C (p.Ile16Thr)	DSG2 (I16T)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 925288	NM_001943.5(DSG2):c.2642C>T (p.Thr881Ile)	DSG2, DSG2-AS1 (T881I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 922473	NM_001943.5(DSG2):c.128A>G (p.His43Arg)	DSG2 (H43R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GUncertain significance
Select item 921954	NM_001943.5(DSG2):c.466G>A (p.Glu156Lys)	DSG2 (E156K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GUncertain significance
Select item 921885	NM_001943.5(DSG2):c.233C>A (p.Ala78Glu)	DSG2 (A78E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GUncertain significance
Select item 920812	NM_001943.5(DSG2):c.2035G>A (p.Gly679Ser)	DSG2, DSG2-AS1 (G679S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GUncertain significance
Select item 918592	NM_001943.5(DSG2):c.914A>G (p.Asn305Ser)	DSG2 (N305S)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 918442	NM_001943.5(DSG2):c.2948G>A (p.Gly983Asp)	DSG2, DSG2-AS1 (G983D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 890672	NM_001943.5(DSG2):c.-33G>A	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 861548	NM_001943.5(DSG2):c.1820A>G (p.Tyr607Cys)	DSG2 (Y607C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 858322	NM_001943.5(DSG2):c.2420T>C (p.Leu807Pro)	DSG2, DSG2-AS1 (L807P)	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GUncertain significance
Select item 854675	NM_001943.5(DSG2):c.1106A>T (p.Lys369Met)	DSG2 (K369M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GUncertain significance
Select item 691669	NM_001943.5(DSG2):c.882dup (p.Val295fs)	DSG2 (V295fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 662464	NM_001943.5(DSG2):c.1439C>T (p.Thr480Ile)	DSG2 (T480I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 659450	NM_001943.5(DSG2):c.122A>T (p.His41Leu)	DSG2 (H41L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 653370	NM_001943.5(DSG2):c.523+1_523+2del	DSG2	Deletion (splice donor variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GLikely pathogenic
Select item 652167	NM_001943.5(DSG2):c.2589G>A (p.Met863Ile)	DSG2, DSG2-AS1 (M863I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 629575	NM_001943.5(DSG2):c.2742T>C (p.Ser914=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 629574	NM_001943.5(DSG2):c.2727A>C (p.Glu909Asp)	DSG2, DSG2-AS1 (E909D)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 628808	NM_001943.5(DSG2):c.1292T>C (p.Leu431Ser)	DSG2 (L431S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 626838	NM_001943.5(DSG2):c.296T>A (p.Phe99Tyr)	DSG2 (F99Y)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GUncertain significance
Select item 618607	NM_001943.5(DSG2):c.2084C>T (p.Thr695Met)	DSG2, DSG2-AS1 (T695M)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 585218	NM_001943.5(DSG2):c.512_516del (p.Leu171fs)	DSG2 (L171fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GPathogenic/Likely pathogenic
Select item 585217	NM_001943.5(DSG2):c.1826dup (p.Leu610fs)	DSG2 (L610fs)	Duplication (frameshift variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 582579	NM_001943.5(DSG2):c.2257del (p.Ala753fs)	DSG2, DSG2-AS1 (A753fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GPathogenic/Likely pathogenic
Select item 581285	NM_001943.5(DSG2):c.2506C>G (p.Leu836Val)	DSG2, DSG2-AS1 (L836V)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 534693	NM_001943.5(DSG2):c.1652-8C>T	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GBenign/Likely benign
Select item 518957	NM_001943.5(DSG2):c.919C>G (p.Leu307Val)	DSG2 (L307V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GUncertain significance
Select item 518781	NM_001943.5(DSG2):c.977A>T (p.Asp326Val)	DSG2 (D326V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 513777	NM_001943.5(DSG2):c.3195T>C (p.Thr1065=)	DSG2-AS1, DSG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GLikely benign
Select item 509789	NM_001943.5(DSG2):c.2340G>T (p.Ala780=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +5 more	GLikely benign
Select item 496663	NM_001943.5(DSG2):c.2471G>A (p.Arg824His)	DSG2-AS1, DSG2 (R824H)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 10 +4 more	GConflicting classifications of pathogenicity
Select item 496149	NM_001943.5(DSG2):c.2510C>A (p.Ala837Asp)	DSG2, DSG2-AS1 (A837D)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 426977	NM_001943.5(DSG2):c.2953G>A (p.Val985Ile)	DSG2, DSG2-AS1 (V985I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1BB +3 more	GUncertain significance
Select item 423983	NM_001943.5(DSG2):c.613C>T (p.Pro205Ser)	DSG2 (P205S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GUncertain significance
Select item 422458	NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile)	DSG2 (T466I)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 421691	NM_001943.5(DSG2):c.1605C>A (p.Asp535Glu)	DSG2 (D535E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +4 more	GUncertain significance
Select item 420800	NM_001943.5(DSG2):c.2955del (p.Val986fs)	DSG2, DSG2-AS1 (V986fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1BB +3 more	GConflicting classifications of pathogenicity
Select item 420292	NM_001943.5(DSG2):c.3144_3147del (p.Arg1049fs)	DSG2, DSG2-AS1 (R1049fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GUncertain significance
Select item 419925	NM_001943.5(DSG2):c.121C>A (p.His41Asn)	DSG2 (H41N)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GLikely benign
Select item 417865	NM_001943.5(DSG2):c.527C>T (p.Thr176Ile)	DSG2 (T176I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 410374	NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu)	DSG2, DSG2-AS1 (F776L)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 410368	NM_001943.5(DSG2):c.908C>T (p.Ser303Phe)	DSG2 (S303F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 410367	NM_001943.5(DSG2):c.1256A>T (p.Asp419Val)	DSG2 (D419V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 326495	NM_001943.5(DSG2):c.*211A>G	DSG2, DSG2-AS1	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 326486	NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr)	DSG2, DSG2-AS1 (R915T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +4 more	GConflicting classifications of pathogenicity
Select item 280230	NM_001943.5(DSG2):c.495dup (p.Gly166fs)	DSG2 (G166fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 264559	NM_001943.5(DSG2):c.2702A>G (p.Lys901Arg)	DSG2, DSG2-AS1 (K901R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 264018	NM_001943.5(DSG2):c.2575A>G (p.Thr859Ala)	DSG2, DSG2-AS1 (T859A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 263501	NM_001943.5(DSG2):c.208A>G (p.Ile70Val)	DSG2 (I70V)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 252596	NM_001943.5(DSG2):c.961T>A (p.Phe321Ile)	DSG2 (F321I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 228629	NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn)	DSG2 (D509N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 199827	NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)	DSG2, DSG2-AS1 (E1020fs)	Microsatellite (frameshift variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 199826	NM_001943.5(DSG2):c.2646CTC[1] (p.Ser884del)	DSG2, DSG2-AS1 (S884del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 199821	NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile)	DSG2, DSG2-AS1 (T1056I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 199809	NM_001943.5(DSG2):c.1555G>T (p.Asp519Tyr)	DSG2 (D519Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 199797	NM_001943.5(DSG2):c.216+3A>C	DSG2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 199792	NM_001943.5(DSG2):c.2750C>T (p.Ala917Val)	DSG2, DSG2-AS1 (A917V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GLikely benign
Select item 191632	NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val)	DSG2, DSG2-AS1 (G1089V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GUncertain significance
Select item 191631	NM_001943.5(DSG2):c.1460T>C (p.Ile487Thr)	DSG2 (I487T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GUncertain significance
Select item 191626	NM_001943.5(DSG2):c.430G>A (p.Glu144Lys)	DSG2 (E144K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 188451	NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys)	DSG2 (Y198C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1BB +4 more	GUncertain significance
Select item 188450	NM_001943.5(DSG2):c.523+1G>C	DSG2	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 188449	NM_001943.5(DSG2):c.523+20T>C	DSG2	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 179897	NM_001943.5(DSG2):c.98A>C (p.Asn33Thr)	DSG2 (N33T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GUncertain significance
Select item 179849	NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn)	DSG2-AS1, DSG2	Indel (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 179294	NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile)	DSG2, DSG2-AS1 (S699I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 178022	NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met)	DSG2, DSG2-AS1 (T1070M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 178021	NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala)	DSG2, DSG2-AS1 (G678A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 177961	NM_001943.5(DSG2):c.2368C>T (p.His790Tyr)	DSG2, DSG2-AS1 (H790Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 163223	NM_001943.5(DSG2):c.2960T>C (p.Val987Ala)	DSG2, DSG2-AS1 (V987A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GUncertain significance
Select item 163217	NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys)	DSG2-AS1, DSG2 (E769K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 163216	NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile)	DSG2, DSG2-AS1 (T751I)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 163212	NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser)	DSG2 (N493S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 163205	NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del)	DSG2 (K346del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 163204	NM_001943.5(DSG2):c.806T>C (p.Ile269Thr)	DSG2 (I269T)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 161224	NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)	DSG2 (G638R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 44330	NM_001943.5(DSG2):c.875G>A (p.Arg292His)	DSG2 (R292H)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 44324	NM_001943.5(DSG2):c.581C>T (p.Ser194Leu)	DSG2 (S194L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 44321	NM_001943.5(DSG2):c.523+2T>C	DSG2	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 44319	NM_001943.5(DSG2):c.473T>G (p.Val158Gly)	DSG2 (V158G)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GBenign/Likely benign
Select item 44314	NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala)	DSG2, DSG2-AS1 (T1099A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 44311	NM_001943.5(DSG2):c.3140C>G (p.Thr1047Arg)	DSG2, DSG2-AS1 (T1047R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance

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